{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:19:51Z","timestamp":1761823191581},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2009,9,18]],"date-time":"2009-09-18T00:00:00Z","timestamp":1253232000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2010,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The aim of this study is to report the evolution of a phenotype in members of a single family carrying the heterozygous exon 1 c.178 C\/G, p.Arg 60 Gly <jats:italic>LMNA<\/jats:italic> gene mutation. All mutated family members underwent neurological and cardiological assessments for a period ranging from 10 to 20 years. At onset, 4 affected adult members presented a phenotype that required pacemaker implantation. Three subjects underwent cardiac transplantation leading to long\u2010term survival in 2 of them. One of the 3 longest surviving relatives manifested late lipodystrophy, and the other 2 had lipodystrophy, insulin\u2010resistant diabetes, and distal peripheral neuropathy. The findings demonstrate that the exon 1 c.178 C\/G, p.Arg 60 Gly <jats:italic>LMNA<\/jats:italic> gene mutation is associated with a novel phenotype featuring cardiac involvement followed by late lipodystrophy, diabetes, and peripheral axonal neuropathy. 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